GPⅢa PLA2、PEAR1、PTGS1基因多态性与阿司匹林临床抗血栓疗效关联性研究

摘要

Objective: To explore the relevance between GPⅢа PLA2, PEAR1, PTGS1 gene polymorphisms and clinical antithrombotic efficacy of aspirin. Methods: A total of 138 patients who were diagnosed with ischemic disease, tested for aspirin related genes and detected the level of platelet aggregation rate were selected retrospectively from January 2015 to May 2016 in our hospital. The AA-induced platelet aggregation rate was used to determine the efficacy of aspirin, and analyzed the impact of the related gene polymorphisms. Results: GpⅢa PLA2 and PTGS1 gene polymorphisms were rare in Han Chinese population. The frequency of PEAR1 allele gene was 63.8%, and the mutant heterozygous frequencies were higher than mutant homozygotic types. The platelet aggregation rate of PEAR1 homozygous mutation was significantly higher than that of wild homozygous (P = 0.007). However, there was no significant difference between mutant heterozygous and wild homozygous genotype (P = 0.135). The platelet aggregation rate of PEAR1 mutation (AG and AA) was significantly higher than that of wild homozygous GG (P = 0.040). In general, when the number of mutation sites were more, the platelet aggregation rate would be higher. Conclusion: PEAR1 gene polymorphisms were related to the antithrombotic efficacy of aspirin, and the platelet aggregation rate increased with the increase of the number of mutant geneloci in PEAR1.%目的:探讨GPⅢа PLA2、PEAR1、PTGS1基因多态性与阿司匹林临床抗血栓疗效的相关性.方法:回顾性筛选我院2015年1月 – 2016年5月诊断为缺血性疾病并行阿司匹林相关基因检测及血小板聚集率实验室检测的患者信息,共计138例,以花生四烯酸诱导的血小板聚集率数值判断患者服用阿司匹林的疗效,分析影响阿司匹林疗效相关基因多态性.结果:GPⅢа PLA2及PTGS1突变频率较低,PEAR1基因突变频率较高,等位基因频率为63.8%,且突变杂合型频率高于突变纯合型.PEAR1突变纯合型的血小板聚集率显著高于野生型(P = 0.007),而突变杂合型与野生型相比未表现出显著性差异(P =0.135).PEAR1基因突变型(AG和AA)的血小板聚集率显著高于野生型GG(P = 0.040),从总体来看,突变位点数目越多,对应的血小板聚集率就越高.结论:PEAR1基因多态性与阿司匹林抗血栓疗效存在相关性,并随着PEAR1的突变基因位点数量增加血小板聚集率也逐渐增加.